rs749765738
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs749765738(A;G) |
| Make rs749765738(G;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 1 |
| Position | 11792276 |
| Gene | MTHFR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs749765738 |
| dbSNP (classic) | rs749765738 |
| ClinGen | rs749765738 |
| ebi | rs749765738 |
| HLI | rs749765738 |
| Exac | rs749765738 |
| Gnomad | rs749765738 |
| Varsome | rs749765738 |
| LitVar | rs749765738 |
| Map | rs749765738 |
| PheGenI | rs749765738 |
| Biobank | rs749765738 |
| 1000 genomes | rs749765738 |
| hgdp | rs749765738 |
| ensembl | rs749765738 |
| geneview | rs749765738 |
| scholar | rs749765738 |
| rs749765738 | |
| pharmgkb | rs749765738 |
| gwascentral | rs749765738 |
| openSNP | rs749765738 |
| 23andMe | rs749765738 |
| SNPshot | rs749765738 |
| SNPdbe | rs749765738 |
| MSV3d | rs749765738 |
| GWAS Ctlg | rs749765738 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs749765738(C;C) rs749765738(G;G) |
| Alt | rs749765738(C;C) rs749765738(G;G) |
| Reference | Rs749765738(A;A) |
| Significance | Pathogenic |
| Disease | Homocysteinemia due to MTHFR deficiency |
| Variation | info |
| Gene | MTHFR |
| CLNDBN | Homocysteinemia due to MTHFR deficiency |
| Reversed | 0 |
| HGVS | NC_000001.10:g.11852333A>C |
| CLNSRC | |
| CLNACC | RCV000167617.1, |
